All variants in the LDLR gene

Information The variants shown are described using the NM_000527.4 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Protein     

RNA change     

DNA/Legacy     

Predict/MutationTaster     

P-domain     

Predict/PolyPhen     

Predict/SIFT     

Conservation     

Predict/Splice     

Enzyme activity     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+?/+? 5 c.782G>T p.(Cys261Phe) r.(?) C240F disease causing LDL-receptor class A6 PPII HumDiv probably damaging, 1; HumVar probably damaging, 1 Not tolerated; SIFT2 Not tolerated 1; (Ch, Rh, D, P, B, M, Ra, H, Rb, Ck, X, Z, S) - - ACGS likely pathogenic g.11217328G>T g.11106652G>T - - LDLR_000647 - PubMed: Ekstrom 1999 - rs121908040 Germline - 0.00002471 ExAC, May 2015 - 0 - Sarah Leigh
+?/+? 5 c.782G>T p.(Cys261Phe) r.(?) C240F disease causing LDL-receptor class A6 PPII HumDiv probably damaging, 1; HumVar probably damaging, 1 Not tolerated; SIFT2 Not tolerated 1; (Ch, Rh, D, P, B, M, Ra, H, Rb, Ck, X, Z, S) - - ACGS likely pathogenic g.11217328G>T g.11106652G>T - - LDLR_000647 - PubMed: Leren 2004 - rs121908040 Germline - 0.00002471 ExAC, May 2015 - 0 - Sarah Leigh
+?/+? 5 c.782G>T p.(Cys261Phe) r.(?) C240F disease causing LDL-receptor class A6 PPII HumDiv probably damaging, 1; HumVar probably damaging, 1 Not tolerated; SIFT2 Not tolerated 1; (Ch, Rh, D, P, B, M, Ra, H, Rb, Ck, X, Z, S) - - ACGS likely pathogenic g.11217328G>T g.11106652G>T - - LDLR_000647 - PubMed: Brusgaard 2006 - rs121908040 Germline - 0.00002471 ExAC, May 2015 - 0 - Sarah Leigh
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